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In January 2017, doctors on our Scientific and Medical Advisory Board co-authored a paper in eLife zooming in on one particular part of the developing cerebellum – the rhombic lip – as a stem cell population particularly vulnerable to fetal insults during development that can cause Dandy-Walker. This adds to the body of knowledge on how a protein (SDF1α) affects a signaling factor (Foxc1) in the 6p25 gene located on chromosome 6 responsible for the posteria cerebellum developing and is key to understanding the posterior vermis.

In June 2017, published a paper in the American Journal of Medical Genetics sharing how they identified a mutated gene, ARMC9, as a ciliopathy-associated gene. This discovery brings us another step closer to defining the central biological mechanisms and a full genetic understanding of hindbrain malformations like Dandy-Walker Syndrome.

A service of the U.S. National Library of Medicine and the National Institutes of Health. Click on the logo for peer reviewed medical journals articles published in the last 5 years on Dandy-Walker Syndrome.

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